ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)

dbSNP: rs587784188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231309 SCV000194247 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV002291571 SCV002584433 pathogenic not provided 2022-10-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect - Brain Gene Registry RCV003231309 SCV004176883 not provided Sotos syndrome no assertion provided phenotyping only Variant classified as Pathogenic and reported on 10-30-2012 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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